LOCUS       NP_054727                627 aa            linear   PRI 28-APR-2025
DEFINITION  coiled-coil domain-containing protein 22 [Homo sapiens].
ACCESSION   NP_054727
VERSION     NP_054727.1
DBSOURCE    REFSEQ: accession NM_014008.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 627)
  AUTHORS   Boesch,D.J., Singla,A., Han,Y., Kramer,D.A., Liu,Q., Suzuki,K.,
            Juneja,P., Zhao,X., Long,X., Medlyn,M.J., Billadeau,D.D., Chen,Z.,
            Chen,B. and Burstein,E.
  TITLE     Structural organization of the retriever-CCC endosomal recycling
            complex
  JOURNAL   Nat Struct Mol Biol 31 (6), 910-924 (2024)
   PUBMED   38062209
REFERENCE   2  (residues 1 to 627)
  AUTHORS   Healy,M.D., McNally,K.E., Butkovic,R., Chilton,M., Kato,K.,
            Sacharz,J., McConville,C., Moody,E.R.R., Shaw,S.,
            Planelles-Herrero,V.J., Yadav,S.K.N., Ross,J., Borucu,U.,
            Palmer,C.S., Chen,K.E., Croll,T.I., Hall,R.J., Caruana,N.J.,
            Ghai,R., Nguyen,T.H.D., Heesom,K.J., Saitoh,S., Berger,I.,
            Schaffitzel,C., Williams,T.A., Stroud,D.A., Derivery,E.,
            Collins,B.M. and Cullen,P.J.
  TITLE     Structure of the endosomal Commander complex linked to
            Ritscher-Schinzel syndrome
  JOURNAL   Cell 186 (10), 2219-2237 (2023)
   PUBMED   37172566
REFERENCE   3  (residues 1 to 627)
  AUTHORS   Neri,S., Maia,N., Fortuna,A.M., Damasio,J., Coale,E., Willis,M.,
            Jorge,P., Hojte,A.F., Fenger,C.D., Moller,R.S. and Bayat,A.
  TITLE     Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22
            -related Ritscher-Schinzel syndromes
  JOURNAL   Eur J Med Genet 65 (11), 104624 (2022)
   PUBMED   36130690
  REMARK    GeneRIF: Expanding the pre- and postnatal phenotype of WASHC5 and
            CCDC22 -related Ritscher-Schinzel syndromes.
REFERENCE   4  (residues 1 to 627)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (residues 1 to 627)
  AUTHORS   Starokadomskyy,P., Gluck,N., Li,H., Chen,B., Wallis,M., Maine,G.N.,
            Mao,X., Zaidi,I.W., Hein,M.Y., McDonald,F.J., Lenzner,S., Zecha,A.,
            Ropers,H.H., Kuss,A.W., McGaughran,J., Gecz,J. and Burstein,E.
  TITLE     CCDC22 deficiency in humans blunts activation of proinflammatory
            NF-kappaB signaling
  JOURNAL   J Clin Invest 123 (5), 2244-2256 (2013)
   PUBMED   23563313
  REMARK    GeneRIF: CCDC22 participates in NF-kappaB activation and its
            deficiency leads to decreased IkappaB turnover
REFERENCE   6  (residues 1 to 627)
  AUTHORS   Voineagu,I., Huang,L., Winden,K., Lazaro,M., Haan,E., Nelson,J.,
            McGaughran,J., Nguyen,L.S., Friend,K., Hackett,A., Field,M.,
            Gecz,J. and Geschwind,D.
  TITLE     CCDC22: a novel candidate gene for syndromic X-linked intellectual
            disability
  JOURNAL   Mol Psychiatry 17 (1), 4-7 (2012)
   PUBMED   21826058
  REMARK    GeneRIF: This study demonistrated that CCDC22 is a novel candidate
            gene for syndromic X-linked intellectual disability.
REFERENCE   7  (residues 1 to 627)
  AUTHORS   Suttner,K., Depner,M., Wetzke,M., Klopp,N., von Mutius,E.,
            Illig,T., Sparwasser,T. and Kabesch,M.
  TITLE     Genetic variants harbored in the forkhead box protein 3 locus
            increase hay fever risk
  JOURNAL   J Allergy Clin Immunol 125 (6), 1395-1399 (2010)
   PUBMED   20398921
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 627)
  AUTHORS   Mulder,J., Wernerus,H., Shi,T.J., Ponten,F., Hober,S., Uhlen,M. and
            Hokfelt,T.
  TITLE     Systematically generated antibodies against human gene products:
            high throughput screening on sections from the rat nervous system
  JOURNAL   Neuroscience 146 (4), 1689-1703 (2007)
   PUBMED   17478047
REFERENCE   9  (residues 1 to 627)
  AUTHORS   Tomsig,J.L., Snyder,S.L. and Creutz,C.E.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
  REMARK    GeneRIF: Identifies the homologous mouse protein as a
            copine-binding protein.
REFERENCE   10 (residues 1 to 627)
  AUTHORS   Elliott,A.M. and Chudley,A.
  TITLE     Ritscher-Schinzel Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31971710
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC340647.1, AJ005890.1 and
            BC000972.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein containing a coiled-coil
            domain. The encoded protein functions in the regulation of NF-kB
            (nuclear factor kappa-light-chain-enhancer of activated B cells) by
            interacting with COMMD (copper metabolism Murr1 domain-containing)
            proteins. The mouse orthologous protein has been shown to bind
            copines, which are calcium-dependent, membrane-binding proteins
            that may function in calcium signaling. This human gene has been
            identified as a novel candidate gene for syndromic X-linked
            intellectual disability. [provided by RefSeq, Aug 2013].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.584118.1,
                                           SRR1803614.180387.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376227.4/ ENSP00000365401.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..627
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     Protein         1..627
                     /product="coiled-coil domain-containing protein 22"
                     /note="coiled-coil domain containing 22"
                     /calculated_mol_wt=70625
     Region          1..597
                     /region_name="CCDC22"
                     /note="Coiled-coil domain-containing protein 22;
                     pfam05667"
                     /db_xref="CDD:461708"
     Region          1..447
                     /region_name="Sufficicient and required for interaction
                     with CCDC93. /evidence=ECO:0000269|PubMed:25355947"
                     /note="propagated from UniProtKB/Swiss-Prot (O60826.1)"
     Region          1..321
                     /region_name="Sufficient for interaction with COMMD1.
                     /evidence=ECO:0000269|PubMed:25355947"
                     /note="propagated from UniProtKB/Swiss-Prot (O60826.1)"
     Region          218..243
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O60826.1)"
     Site            410
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18088087; propagated from
                     UniProtKB/Swiss-Prot (O60826.1)"
     CDS             1..627
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /coded_by="NM_014008.5:168..2051"
                     /db_xref="CCDS:CCDS14322.1"
                     /db_xref="GeneID:28952"
                     /db_xref="HGNC:HGNC:28909"
                     /db_xref="MIM:300859"
ORIGIN      
        1 meeadrilih slrqagtavp pdvqtlraft telvveavvr clrvinpavg sglspllpla
       61 msarfrlams laqacmdlgy plelgyqnfl ypsepdlrdl llflaerlpt dasedadqpa
      121 gdsaillrai gsqirdqlal pwvpphlrtp klqhlqgsal qkpfhasrlv vpelssrgep
      181 refqasplll pvptqvpqpv grvasllehh alqlcqqtgr drpgdedwvh rtsrlppqed
      241 traqrqrlqk qltehlrqsw gllgapiqar dlgellqawg agaktgapkg srfthsekft
      301 fhlepqaqat qvsdvpatsr rpeqvtwaaq eqeleslreq legvnrsiee veadmktlgv
      361 sfvqaesecr hsklstaere qalrlksrav ellpdgtanl aklqlvvens aqrvihlagq
      421 wekhrvplla eyrhlrklqd crelessrrl aeiqelhqsv raaaeearrk eevykqlmse
      481 letlprdvsr laytqrilei vgnirkqkee itkilsdtke lqkeinslsg kldrtfavtd
      541 elvfkdakkd davrkaykyl aalhencsql iqtiedtgti mrevrdleeq ietelgkktl
      601 snlekiredy ralrqenagl lgrvrea
//
